Persistent Obstructive Sleep Apnea Post-adenotonsillectomy in Children.

Background Childhood obstructive sleep apnea (OSA) is a common disorder in children mostly due to adenotonsillar hypertrophy. Therefore, adenotonsillectomy is the mainstay of treatment. However, the outcome of adenotonsillectomy is limited in some patients who develop persistent OSA (POSA). We aim to evaluate the prevalence, risk factors, and treatments of POSA in the pediatric population in Qatar. Methodology This is a retrospective review of medical electronic records of patients aged 1-18 years, who underwent adenoidectomy and/or tonsillectomy at Sidra Medicine (Doha, Qatar) between June 2017 and September 2022. Demographic, clinical, and polysomnography (PSG) data were collected. POSA was defined as the persistence of at least one of the following OSA symptoms: snoring, gasping, mouth breathing or witnessed sleep apnea during post-surgery clinic visits, and/or post-surgical diagnosis of OSA by PSG. The prevalence of POSA was defined as the number of patients who had persistent symptoms divided by patients who were followed at outpatient clinics (ENT/pulmonology) post-surgery. Risk factors for POSA were evaluated using multivariate regression analysis. Results A total of 410 patients (259 males and 151 females) underwent adenotonsillectomy during the study period. The average age at surgery was 3.6 ± 2.5 years. The majority of patients (85.9%) had no history of underlying medical conditions. The rest of the patients (14.1%) were diagnosed with chromosomal abnormalities or neuromuscular disorders. All patients (100%) had a history of snoring before surgery, and 32.4% of patients had a history of witnessed sleep apnea. A total of 52 patients had persistent symptoms four months post-surgery. POSA prevalence was estimated at 15.4%. Univariate analysis showed young age at the time of surgery (p = 0.015), history of asthma (23%, 12/52) (p = 0.002), allergic rhinitis (13%, 7/52) (p = 0.001), gastroesophageal reflux disease ((11%, 6/52) (p < 0.001), and genetic syndromes (17%, 9/52) (p < 0.005) as significant risk factors for POSA. Multiple regression analysis showed that syndromic disorders and allergic rhinitis were significantly correlated with persistent OSA (p = 0.021 and p = 0.000, respectively). Conclusions POSA is prevalent in children post-tonsillectomy and adenoidectomy, especially in patients with genetic syndromes and those with symptoms of allergic rhinitis. Future studies are needed to better define the condition and provide evidence-based diagnostic and therapeutic approaches.

Spontaneous Pneumothorax in a Term Neonate.

Pneumothorax is a rare cause of respiratory distress in the newborn. We report our experience with a full-term female neonate who had primary spontaneous pneumothorax. No risk factors were identified. The pneumothorax was resolved completely with conservative management.

Evaluation of Complex Upper Airway Obstruction in Children Using Cine-MRI: A Single-Center Experience and Literature Review.

Introduction Polysomnography (PSG) is considered the gold standard diagnostic test for obstructive sleep apnea (OSA) in children. However, the anatomic location of upper airway obstruction in these patients cannot be determined by PSG, especially in children with complex upper airway obstruction. CT imaging and endoscopic evaluation have been proposed for the evaluation of upper airways in these children. However, cinematic magnetic resonance imaging (Cine-MRI) is a safer, less invasive, and potentially more useful tool for dynamic and anatomical evaluation of upper airways. We here describe the diagnostic outcomes of Cine-MRI in our cohort of children with OSA and suspected complex upper airway obstruction. Methods A retrospective chart review of clinical and radiological data of all children with PSG confirmed diagnosis of OSA and who underwent upper airway evaluation using Cine-MRI. Upper airways were evaluated at three different levels: nasopharynx, oropharynx, and supraglottic, during both inspiration and expiration. Fractional collapse (FC) at different levels was used to evaluate dynamic airway collapse and was defined as the difference between maximum and minimum airway dimensions divided by the maximum dimensions. Results Eight children (five females and three males) were included. Median age was 8.5 months (range: one month to 16 years). Cine-MRIs identified upper airway obstruction in all patients. Additionally, 50% of the patients had more than one level of obstruction, mainly the nasopharynx and oropharynx. There was a positive correlation between the apnea-hypopnea index (AHI) and FC in the anteroposterior dimension at the nasopharyngeal and the oropharyngeal levels, but it did not reach statistical significance. However, there was a statistically significant negative correlation between AHI and FC in the transverse dimension at the oropharyngeal level. Cine-MRI was helpful in continuous positive airway pressure (CPAP) titration in two patients and was helpful in planning surgical intervention in two patients. Conclusion Cine-MRI is a helpful diagnostic tool in evaluating patients with complex upper airway obstruction and can direct potential surgical and non-surgical intervention in pediatric patients with complex upper airway obstruction.

Prevalence, Severity, and Treatment of Obstructive Sleep Apnea in Children with Down Syndrome in Qatar.

INTRODUCTION: Patients with Down syndrome (DS) are at risk for sleep disorder breathing (SDB) due to their abnormal craniofacial anatomy, hypotonia, and propensity for obesity. The prevalence and severity of SDB in this population vary between different cohorts due to the multifactorial nature of these patients and the different diagnostic criteria used. We aim to report the prevalence and severity of SDB in the DS population in Qatar. METHODS: This study is a retrospective review of all patients with genetically confirmed DS who completed a diagnostic polysomnography (PSG) study at Sidra Medicine in Doha, Qatar, which is the only pediatric sleep center in the country, between September 2019 and July 2022. Clinical and PSG data were collected from the patients' electronic medical records. Central and obstructive events were scored according to the American Academy of Sleep Medicine (AASM) criteria. Obstructive sleep apnea (OSA) diagnosis was made based on apnea-hypopnea index (AHI) and defined as AHI >1.5 events/hour. OSA was considered mild if AHI was ≥ 1.5 but < 5, moderate if AHI was ≥ 5 but < 10, and severe if AHI was ≥ 10 events/hour. Diagnosis with central apnea was considered if the central apnea index was > 5 events/hour. Hypoventilation was considered present if end-tidal/transcutaneous carbon dioxide gas was more than 50 mmHg for more than 25% of total sleep time. Multiple regression analysis was performed to evaluate predictors of high AHI and rapid eye movement (REM)-AHI. RESULTS: A total of 80 patients (49 males and 31 females) were included. Median (range) age was 7.3 years (0.9, 21). The mean (range) BMI z-score was 1.7 (-1.3, 4.3). Sixty-five patients were diagnosed with OSA, with a prevalence rate of 81%. OSA was mild in 25 (38.5%) patients, moderate in 15 (23.1%) patients, and severe in 25 (38.5%) patients. Only one patient was diagnosed with central apnea and five patients (6.9%) with alveolar hypoventilation. Multiple regression analysis showed BMI (P = 0.007) and snoring/apnea symptoms (P=0.023) to be predictive of high AHI. No correlation was found between the same variables and REM-AHI. Treatments used for OSA included anti-inflammatory medications in 37 (46%) patients, tonsillectomy/adenoidectomy in 13 (16.5%) patients, and positive airway pressure support in 10 (15%) patients. CONCLUSION: Our patient population with DS had a high prevalence of OSA comparable to other reported cohorts. High BMI and symptoms of snoring are predictive of OSA.

Management Challenges of Sleep-Disordered Breathing in a Child With Chronic Kidney Disease: A Case Report of a Child on Peritoneal Dialysis.

Chronic kidney disease in children is a challenging condition that requires careful management. When combined with sleep-disordered breathing, it can pose even greater difficulties. This case report highlights the management challenges of a child with chronic kidney disease and sleep-disordered breathing. Through careful analysis and effective intervention, we were able to address the challenges and improve the child's quality of life. Understanding the complex interaction between these two conditions is crucial for healthcare professionals to provide effective care for children with chronic kidney disease and sleep-disordered breathing.

Prevalence of Sleep-Disordered Breathing in Prader-Willi Syndrome.

Introduction: Sleep-disordered breathing (SDB) is common in patients with Prader-Willi Syndrome (PWS). However, the prevalence of SDB varies widely between studies. Early identification of SDB and factors contributing to its incidence is essential, particularly when considering growth hormone (GH) therapy. Objectives: The aims of the study were to describe the prevalence and phenotypes of sleep-disordered breathing (SDB) in patients with Prader-Willi syndrome (PWS) and to determine the effects of age, gender, symptoms, GH therapy and body mass index on SDB severity. Methods: This study was a retrospective chart review of all patients with genetically confirmed Prader-Willi syndrome who underwent diagnostic overnight polysomnography (PSG) in the sleep laboratory at Sidra Medicine. Clinical and PSG data of enrolled patients were collected. Results: We identified 20 patients (nine males, eleven females) with PWS who had overnight sleep polysomnography (PSG) at a median age (IQR) of 5.83 (2.7-12) years. The median apnea-hypopnea index (AHI) was 8.55 (IQR 5.8-16.9) events/hour. The median REM-AHI was 27.8 (IQR 15-50.6) events/hour. The median obstructive apnea-hypopnea index (OAHI) was 7.29 (IQR 1.8-13.5) events/hour. The median central apnea-hypopnea index (CAHI) was 1.77 (IQR 0.6-4.1) events/hour. Nineteen patients (95%) demonstrated SDB by polysomnography (PSG) based on AHI ≥1.5 events/hour. Nine patients (45%) were diagnosed with obstructive sleep apnea (OSA). Three patients (15%) were diagnosed with central sleep apnea (CSA). Seven patients (35%) were diagnosed with mixed sleep apnea. No correlations were observed between AHI and age, gender, BMI, symptoms, or GH therapy. However, REM-AHI was significantly correlated with BMI (P=0.031). Conclusion: This study shows a high prevalence of SDB among our patients with PWS. Obstructive sleep apnea was the predominant phenotype. BMI was the only predictor for high REM-AHI. Further studies of large cohorts are warranted to define SDB in PWS and design the appropriate treatment.

Outcome of Newborns with Tracheoesophageal Fistula: An Experience from a Rapidly Developing Country: Room for Improvement.

Methods: This is a retrospective review of the medical electronic charts of patients with TEF that were followed at Sidra Medicine in the state of Qatar. The review included the patients who were operated upon in the period of 2011-2021 but continued to follow at our institution in the period of 2018-2021. Demographic data, associated anomalies, preoperative, operative, and postoperative courses, and growth parameters were collected. Results: A total of 35 patients with TEF (24 males and 11 females) were collected. 49% were full term. We identified seven patients (20%) with isolated TEF, TEF with VACTERL association in 29% of our patients, other chromosomal anomalies in 17%, or associated with other anomalies (not related to VACTERL) in 34% of the patients. The majority of the patients (94%) were of type C-TEF (TEF with esophageal atresia-EA/TEF). All patients were operated except for one patient who died at 2 days of life due to cardiac complications. Median age at which surgery was performed was 2 days (range 1-270 days). Median follow-up was 32 months (range 7-115 months). Immediate postoperative complications were encountered in eleven patients (33%) and included anastomosis leak in 12%, air leak in 6%, sepsis in 6%, chylothorax in 3%, vocal cord palsy and fistula recurrence (combined) in 3%, and failure of TEF closure in 3% of the patients. Long-term respiratory complications were encountered in 43% of our patients. Long-term gastrointestinal complications included gastroesophageal reflux (GERD) in 63%, dysphagia in 31%, and anastomotic stricture in 34% of the patients. Growth was affected in around a quarter of the patients at 6 months after surgery and 22% at 12-month assessment postoperatively. While only five patients died at our institution, only one was directly related to failure of TEF closure and postoperative complications. Conclusion: This descriptive study reports the clinical outcome of TEF from a rapidly developing country. The distribution of the patients' characteristics and postoperative complications was almost comparable to those from developed countries. This study would aid in addressing the prognostic factors and establishment of evidence-based management pathways of newborns with TEF to improve the clinical outcome in our center and other pediatric tertiary centers in developing countries.

Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature.

Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints' involvement, subcutaneous nodules, and hoarseness of voice. In this report, we describe a 23-month-old boy diagnosed with Farber disease. Initially, he was misdiagnosed as juvenile idiopathic arthritis (JIA) because he presented with joint swelling. However, the associated hoarseness of voice, subcutaneous nodules, and poor response to treatment all have questioned the diagnosis of JIA and prompted the suspicion of Farber disease as an alternative diagnosis. The diagnosis was later confirmed genetically by the presence of a homozygous pathogenic variant (p.Gly213Glu; c.638G > A in exon 8) in the ASAH1 gene. The present case illustrates the diagnostic journey of a child with Farber disease as well as highlights that FD should be considered in the differential diagnosis of early onset arthritis in the presence of subcutaneous nodules and/or hoarseness of voice.

Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar.

Pleuropulmonary blastoma (PPB) is a rare intrathoracic malignancy, which arises from the lung parenchyma and/or pleura. PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. International registry of the disease has a total of 350 cases worldwide. We report the first case of PPB in the state of Qatar, which presented as a large cystic lung lesion. The patient was first thought to have benign congenital pulmonary airway malformation (CPAM) based on chest X-ray findings. The diagnosis of PPB was suspected based on chest CT scan findings and was confirmed after surgical resection of the cystic mass. The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

PURPOSE: Human serine/threonine kinase 4 (STK4) deficiency is a rare, autosomal recessive genetic disorder leading to combined immunodeficiency; however, the extent to which immune signaling and host defense are impaired is unclear. We assessed the functional consequences of a novel, homozygous nonsense STK4 mutation (NM_006282.2:c.871C > T, p.Arg291*) identified in a pediatric patient by comparing his innate and adaptive cell-mediated and humoral immune responses with those of three heterozygous relatives and unrelated controls. METHODS: The genetic etiology was verified by whole genome and Sanger sequencing. STK4 gene and protein expression was measured by quantitative RT-PCR and immunoblotting, respectively. Cellular abnormalities were assessed by high-throughput RT-RCR, RNA-Seq, ELISA, and flow cytometry. Antibody responses were assessed by ELISA and phage immunoprecipitation-sequencing. RESULTS: The patient exhibited partial loss of STK4 expression and complete loss of STK4 function combined with recurrent viral and bacterial infections, notably persistent Epstein-Barr virus viremia and pulmonary tuberculosis. Cellular and molecular analyses revealed abnormal fractions of T cell subsets, plasmacytoid dendritic cells, and NK cells. The transcriptional responses of the patient's whole blood and PBMC samples indicated dysregulated interferon signaling, impaired T cell immunity, and increased T cell apoptosis as well as impaired regulation of cytokine-induced adhesion and leukocyte chemotaxis genes. Nonetheless, the patient had detectable vaccine-specific antibodies and IgG responses to various pathogens, consistent with a normal CD19 + B cell fraction, albeit with a distinctive antibody repertoire, largely driven by herpes virus antigens. CONCLUSION: Patients with STK4 deficiency can exhibit broad impairment of immune function extending beyond lymphoid cells.

Tracheal Bronchus and Associated Anomaly Prevalence Among Children.

Background and objectives Tracheal bronchus (TB) is a rare congenital airway anomaly originating from the trachea, with a reported prevalence of 0.9%-3% in children. Although TB was studied in the literature, this anomaly was not evaluated in Qatar. Our study aimed to identify the prevalence and congenital anomalies associated with TB in children in Qatar. Design In this descriptive study, we identified patients who underwent flexible bronchoscopy (FB) at two large tertiary centers in Qatar from July 2007 to November 2020. The patients' demographic, bronchoscopic, and radiologic data were collected. The prevalence of TB and associated congenital anomalies were determined. Results Of 1786 patients who underwent FB, 20 (1.12%) were diagnosed with TB. The median age at the time of diagnosis was 31 months (range, 2-154 months). The associated congenital anomalies were identified in 16 cases (80%; p = 0.007). Cardiac defects represent the most common associated anomaly (8/20, 40%). Conclusion This study revealed that TB is an uncommon airway anomaly and emphasizes its significant association with other congenital malformations. Our findings should alert physicians to other associated TB anomalies and provide timely management when needed.

Allergic bronchopulmonary aspergillosis in patients with cystic fibrosis.

Allergic bronchopulmonary aspergillosis (ABPA) is a pulmonary disorder that often occurs in patients with asthma or cystic fibrosis (CF) and is characterized by a hypersensitivity response to the allergens of the fungus Aspergillus fumigatus. In patients with CF, growth of A. fumigatus hyphae within the bronchial lumen triggers an immunoglobulin E (IgE)-mediated hypersensitivity response that results in airway inflammation, bronchospasm, and bronchiectasis. In most published studies, the prevalence of ABPA is about 8.9% in patients with CF. Since the clinical features of this condition overlap significantly with that of CF, ABPA is challenging to diagnose and remains underdiagnosed in many patients. Diagnosis of ABPA in CF patients should be sought in those with evidence of clinical and radiologic deterioration that is not attributable to another etiology, a markedly elevated total serum IgE level (while off steroid therapy) and evidence of A. fumigatus sensitization. Management of ABPA involves the use of systemic steroids to reduce inflammation and modulate the immune response. In patients who do not respond to steroids or cannot tolerate them, antifungal agents should be used to reduce the burden of A. fumigatus allergens. Recent studies suggest that omalizumab may be an effective option to reduce the frequency of ABPA exacerbations in patients with CF. Further randomized controlled trials are needed to better establish the efficacy of omalizumab in managing patients with CF and ABPA.

Longitudinal evaluation of sleep-disordered breathing in children with Prader-Willi Syndrome during 2 years of growth hormone therapy.

OBJECTIVE: To review longitudinal polysomnography data to assess sleep-related disordered breathing (SRDB) before and up to 2 years after initiation of growth hormone (GH) therapy in children with Prader-Willi syndrome (PWS). STUDY DESIGN: This was a retrospective review of systematic polysomnography evaluations performed in children with PWS before and at 6 weeks, 6 months, 1 year, and 2 years after initiation of GH therapy. RESULTS: A total of 15 children with PWS were reviewed. At baseline, the median age was 3.7 years (range, 0.8-15.4 years), and the median body mass index percentile was 82.4 (range, 0-100). GH was discontinued in 2 of these 15 children owing to the occurrence of severe obstructive sleep apnea after 6 weeks of GH therapy. The remaining 13 children who were followed for up to 2 years on GH therapy demonstrated no statistically significant trends over time for any adverse sleep-related outcomes, specifically obstructive or central sleep apnea. CONCLUSION: In young children with PWS with known SRDB at baseline, the first few weeks after initiation of GH therapy may represent a vulnerable time for the development of significant SRDB. However, most children with PWS did not show significant changes in SRDB after 2 years of GH therapy. We conclude that long-term GH therapy appears to be safe after an initial period of increased risk in the context of SRDB in children with PWS.